Version 5.4
| Homo sapiens Protein: IGSF1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-86333.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | IGSF1 | ||||||||||||||||||
| Protein Name | immunoglobulin superfamily, member 1 | ||||||||||||||||||
| Synonyms | CHTE; IGCD1; IGDC1; INHBP; p120; PGSF2; | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000359941 | ||||||||||||||||||
| InnateDB Gene | IDBG-86329 (IGSF1) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription. {ECO:0000250, ECO:0000269PubMed:11266516}. | ||||||||||||||||||
| Subcellular Localization | Isoform 1: Membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.Isoform 2: Membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.Isoform 3: Secreted {ECO:0000305}. | ||||||||||||||||||
| Disease Associations | Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]: A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. {ECO:0000269PubMed:23143598}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pituitary gland. {ECO:0000269PubMed:11854097, ECO:0000269PubMed:23143598, ECO:0000269PubMed:9521868}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013151 Immunoglobulin |
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| PFAM |
PF00047
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00408
SM00409 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q8N6C5 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q8N6C5 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 3547 | ||||||||||||||||||
| UniGene | Hs.675945 | ||||||||||||||||||
| RefSeq | |||||||||||||||||||
| HUGO | HGNC:5948 | ||||||||||||||||||
| OMIM | 300137 | ||||||||||||||||||
| CCDS | CCDS55490 | ||||||||||||||||||
| HPRD | 02138 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB002362 AB058894 AF034198 AK226008 AL135784 AL137369 AL590806 Y10523 | ||||||||||||||||||
| GenPept | AAC52057 BAA20819 BAB40235 CAA71535 CAB70713 | ||||||||||||||||||